Incidental Mutation 'IGL01133:0610010F05Rik'
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ID52361
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 0610010F05Rik
Ensembl Gene ENSMUSG00000042208
Gene NameRIKEN cDNA 0610010F05 gene
Synonyms
Accession Numbers
Stock #IGL01133
Quality Score
Status
Chromosome11
Chromosomal Location23564961-23633631 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 23595434 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 486 (D486E)
Ref Sequence ENSEMBL: ENSMUSP00000090955 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043356] [ENSMUST00000093267] [ENSMUST00000109532] [ENSMUST00000155903] [ENSMUST00000180260]
Predicted Effect probably damaging
Transcript: ENSMUST00000043356
AA Change: D486E

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000044265
Gene: ENSMUSG00000042208
AA Change: D486E

DomainStartEndE-ValueType
low complexity region 8 16 N/A INTRINSIC
Pfam:DUF3342 147 449 5.1e-107 PFAM
low complexity region 565 576 N/A INTRINSIC
low complexity region 579 596 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000093267
AA Change: D340E

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000090955
Gene: ENSMUSG00000042208
AA Change: D340E

DomainStartEndE-ValueType
Pfam:DUF3342 1 303 7.7e-107 PFAM
low complexity region 419 430 N/A INTRINSIC
low complexity region 433 450 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000109532
AA Change: D486E

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000105158
Gene: ENSMUSG00000042208
AA Change: D486E

DomainStartEndE-ValueType
low complexity region 8 16 N/A INTRINSIC
Pfam:DUF3342 147 449 5.1e-107 PFAM
low complexity region 565 576 N/A INTRINSIC
low complexity region 579 596 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000155903
AA Change: D486E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000137799
Gene: ENSMUSG00000042208
AA Change: D486E

DomainStartEndE-ValueType
low complexity region 8 16 N/A INTRINSIC
Pfam:DUF3342 147 449 1e-106 PFAM
low complexity region 565 576 N/A INTRINSIC
low complexity region 579 596 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000180260
AA Change: D486E

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000136118
Gene: ENSMUSG00000042208
AA Change: D486E

DomainStartEndE-ValueType
low complexity region 8 16 N/A INTRINSIC
Pfam:DUF3342 147 449 4.5e-107 PFAM
low complexity region 565 576 N/A INTRINSIC
low complexity region 579 596 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik G A 15: 76,950,275 V186I probably damaging Het
1700007G11Rik T C 5: 98,498,381 probably null Het
Adam4 T C 12: 81,421,446 T134A possibly damaging Het
Aen G A 7: 78,907,302 M299I probably damaging Het
BC005561 A G 5: 104,517,662 T17A probably benign Het
Cartpt T G 13: 99,900,040 I67L probably benign Het
Cc2d1a G T 8: 84,143,404 H161N probably benign Het
Ccer1 T C 10: 97,694,539 F355L probably benign Het
Cfap206 C T 4: 34,721,562 S162N probably damaging Het
Cfap36 A C 11: 29,234,414 V114G probably damaging Het
Col4a3bp A G 13: 96,614,802 E320G probably damaging Het
Cyp2b9 G A 7: 26,210,235 G476D probably damaging Het
Eif3l T C 15: 79,076,920 Y58H possibly damaging Het
Gapvd1 T C 2: 34,725,398 Y411C probably damaging Het
Gm27029 G T 11: 101,411,960 F236L possibly damaging Het
Golga1 T C 2: 39,023,472 T501A probably benign Het
Heg1 C T 16: 33,727,287 H839Y probably benign Het
Krt1 A T 15: 101,848,193 D298E probably damaging Het
Mecr T A 4: 131,843,596 S32T probably benign Het
Med1 A T 11: 98,157,986 Y661* probably null Het
Olfr419 T C 1: 174,250,526 S134G probably benign Het
Pla2g12b G T 10: 59,416,417 A37S probably benign Het
Plekha7 G T 7: 116,145,241 probably null Het
Ralgapa1 T C 12: 55,642,348 I1942V possibly damaging Het
Ralgapa1 T C 12: 55,642,359 H1938R probably damaging Het
Sec31b A G 19: 44,527,041 F466S probably damaging Het
Serpina3a T C 12: 104,121,499 I227T probably benign Het
Slc1a3 A G 15: 8,645,687 I278T probably damaging Het
Slc1a3 T C 15: 8,650,993 Y127C probably damaging Het
Spen T C 4: 141,489,901 K449R unknown Het
Tmem130 A G 5: 144,752,445 S129P probably damaging Het
Trim68 A T 7: 102,679,141 probably null Het
Vdac3-ps1 T C 13: 18,031,449 T49A unknown Het
Vmn2r75 A G 7: 86,148,032 Het
Zbtb9 G T 17: 26,975,011 Het
Zfp568 T A 7: 29,987,808 probably null Het
Other mutations in 0610010F05Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01444:0610010F05Rik APN 11 23620225 unclassified 0.00
IGL01522:0610010F05Rik APN 11 23582865 unclassified probably null
IGL01819:0610010F05Rik APN 11 23584561 missense probably benign 0.29
IGL02470:0610010F05Rik APN 11 23615222 missense probably damaging 0.99
IGL03046:0610010F05Rik UTSW 11 23615150 missense possibly damaging 0.77
R0139:0610010F05Rik UTSW 11 23620214 splice site probably benign
R0334:0610010F05Rik UTSW 11 23617129 splice site probably benign
R0646:0610010F05Rik UTSW 11 23575491 missense probably damaging 0.99
R1078:0610010F05Rik UTSW 11 23611762 missense probably benign 0.45
R1263:0610010F05Rik UTSW 11 23620278 nonsense probably null
R1471:0610010F05Rik UTSW 11 23615222 missense probably damaging 0.99
R1568:0610010F05Rik UTSW 11 23589971 missense probably damaging 1.00
R2163:0610010F05Rik UTSW 11 23576826 splice site unknown
R2318:0610010F05Rik UTSW 11 23588701 missense probably damaging 1.00
R2426:0610010F05Rik UTSW 11 23576801 missense probably damaging 1.00
R4373:0610010F05Rik UTSW 11 23615265 splice site probably null
R4688:0610010F05Rik UTSW 11 23593449 missense probably benign
R4816:0610010F05Rik UTSW 11 23615243 missense possibly damaging 0.67
R5046:0610010F05Rik UTSW 11 23620354 missense probably benign 0.23
R5156:0610010F05Rik UTSW 11 23593424 critical splice donor site probably null
R5249:0610010F05Rik UTSW 11 23575483 makesense probably null
R5615:0610010F05Rik UTSW 11 23606759 missense probably damaging 0.96
X0026:0610010F05Rik UTSW 11 23576767 missense probably benign 0.00
X0067:0610010F05Rik UTSW 11 23593420 splice site probably null
Posted OnJun 21, 2013